ClinGen Allele Registry
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Canonical Allele Identifier:
PA645426083
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000400254
RCV000729208
RCV003972410
ClinVar Variation:
334368
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Glu235Lys
CA2112698
NM_000784.4:c.703G>A